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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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YARS1
tyrosyl-tRNA synthetase 1
Chromosome 1 Β· 1p35.1
NCBI Gene: 8565Ensembl: ENSG00000134684.14HGNC: HGNC:12840UniProt: A0A0S2Z4R1
150PubMed Papers
22Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to starvationnucleuscytoplasmcytosolneurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2Autosomal dominant intermediate Charcot-Marie-Tooth disease type CCharcot-Marie-Tooth disease dominant intermediate Cgenetic disorder
✦AI Summary

YARS1 encodes tyrosyl-tRNA synthetase 1, which primarily catalyzes the attachment of tyrosine to tRNA(Tyr) in protein synthesis 1. Beyond its canonical aminoacylation function, YARS1 exhibits several noncanonical activities that contribute to both normal physiology and disease pathogenesis. The protein functions as an actin-bundling factor, with this activity being enhanced by Charcot-Marie-Tooth (CMT) disease mutations, leading to actin cytoskeleton disorganization in neurons 2. YARS1 also acts as a positive regulator of poly-ADP-ribosylation in the nucleus, independently of its aminoacylation activity, with resveratrol binding promoting nuclear relocalization and PARP1 stimulation 1. Disease-causing mutations in YARS1 are associated with dominant CMT neuropathy and autosomal recessive multisystem disorders, with phenotypic diversity correlating with mutations affecting different functional domains 3. The recurrent p.(Arg367Trp) mutation causes a distinct neurodevelopmental phenotype including microcephaly, developmental delay, and multisystem involvement 3. In cancer contexts, YARS1 is upregulated and redirects tyrosine toward translation, particularly in hepatocellular carcinoma, where it supports tumor growth through tyrosine-dependent translation of key metabolic proteins 4. YARS1 expression correlates with poor prognosis in multiple cancer types and represents a potential therapeutic target 5.

Sources cited
1
YARS1 catalyzes tyrosine attachment to tRNA(Tyr) and acts as a nuclear poly-ADP-ribosylation regulator
PMID: 25533949
2
YARS1 has actin-bundling properties enhanced by CMT mutations, causing cytoskeletal disorganization
PMID: 36890170
3
YARS1 mutations cause CMT neuropathy and multisystem disorders with phenotypic diversity based on affected domains
PMID: 34536092
4
YARS1 is upregulated in hepatocellular carcinoma and redirects tyrosine toward translation of metabolic proteins
PMID: 41792125
5
YARS1 expression correlates with poor prognosis in cancer and represents a potential therapeutic target
PMID: 38506098
Disease Associationsβ“˜22
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2Open Targets
0.71Strong
Autosomal dominant intermediate Charcot-Marie-Tooth disease type COpen Targets
0.64Moderate
Charcot-Marie-Tooth disease dominant intermediate COpen Targets
0.55Moderate
genetic disorderOpen Targets
0.51Moderate
Charcot-Marie-Tooth diseaseOpen Targets
0.42Moderate
Neurodevelopmental delayOpen Targets
0.33Weak
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onsetOpen Targets
0.33Weak
Primary amenorrheaOpen Targets
0.26Weak
Agenesis of corpus callosumOpen Targets
0.26Weak
Hepatic steatosisOpen Targets
0.26Weak
retinal degenerationOpen Targets
0.26Weak
Severe hearing impairmentOpen Targets
0.26Weak
intermediate Charcot-Marie-Tooth diseaseOpen Targets
0.15Weak
metachromatic leukodystrophyOpen Targets
0.12Weak
Global developmental delayOpen Targets
0.11Weak
anemiaOpen Targets
0.11Weak
acute kidney injuryOpen Targets
0.11Weak
Cholestatic liver diseaseOpen Targets
0.11Weak
liver failureOpen Targets
0.11Weak
Recurrent infectionsOpen Targets
0.11Weak
Charcot-Marie-Tooth disease, dominant intermediate CUniProt
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2UniProt
Pathogenic Variants15
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate C|not provided|recessive ARS-related multisystem disease|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
β˜…β˜…β˜†β˜†2025β†’ Residue 367
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate C|Charcot-Marie-Tooth disease|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
β˜…β˜…β˜†β˜†2025β†’ Residue 196
NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate C|not provided|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
β˜…β˜…β˜†β˜†2023β†’ Residue 167
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate C
β˜…β˜…β˜†β˜†2023β†’ Residue 196
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate C|Charcot-Marie-Tooth disease
β˜…β˜†β˜†β˜†2026β†’ Residue 41
NM_003680.4(YARS1):c.499C>G (p.Pro167Ala)Likely pathogenic
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
β˜…β˜†β˜†β˜†2024β†’ Residue 167
NM_003680.4(YARS1):c.159del (p.Phe53fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 53
NM_003680.4(YARS1):c.789C>A (p.Phe263Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 263
NM_003680.4(YARS1):c.46C>T (p.Arg16Trp)Likely pathogenic
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
β˜…β˜†β˜†β˜†β†’ Residue 16
NM_003680.4(YARS1):c.485G>C (p.Ser162Thr)Likely pathogenic
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
β˜…β˜†β˜†β˜†β†’ Residue 162
NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)Pathogenic
Severe hearing impairment;Hepatic steatosis;Retinal degeneration;Corpus callosum, agenesis of;Primary amenorrhea|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
β˜†β˜†β˜†β˜†2022β†’ Residue 269
NM_003680.4(YARS1):c.1573G>A (p.Gly525Arg)Pathogenic
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
β˜†β˜†β˜†β˜†2021β†’ Residue 525
NM_003680.4(YARS1):c.638C>T (p.Pro213Leu)Pathogenic
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
β˜†β˜†β˜†β˜†2021β†’ Residue 213
NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate C
β˜†β˜†β˜†β˜†2014β†’ Residue 81
NM_003680.4(YARS1):c.458_469del (p.Val153_Val156del)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate C
β˜†β˜†β˜†β˜†2006β†’ Residue 153
View on ClinVar β†—
Related Genes
LARS1Protein interaction100%MRPL12Protein interaction100%POLG2Protein interaction100%LARS2Protein interaction98%IARS2Protein interaction98%FARSAProtein interaction97%
Tissue Expression6 tissues
Brain
100%
Lung
63%
Liver
59%
Bone Marrow
54%
Heart
31%
Ovary
26%
Gene Interaction Network
Click a node to explore
YARS1LARS1MRPL12POLG2LARS2IARS2FARSA
PROTEIN STRUCTURE
Preparing viewer…
PDB1N3L Β· 1.18 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.42–0.73]
RankingsWhere YARS1 stands among ~20K protein-coding genes
  • #3,029of 20,598
    Most Researched150 Β· top quartile
  • #2,441of 5,498
    Most Pathogenic Variants15
  • #5,718of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedYARS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
PMID: 36890170
Nat Commun Β· 2023
0.90
3
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
PMID: 34536092
J Mol Med (Berl) Β· 2021
0.80
4
Unveiling the role of YARS1 in bladder cancer: A prognostic biomarker and therapeutic target.
PMID: 38506098
J Cell Mol Med Β· 2024
0.70
5
Tyrosine and Phenylalanine Activate Neuronal DNA Repair but Exhibit Opposing Effects on Global Transcription and Adult Female Mice Are Resilient to TyrRS/YARS1 Depletion.
PMID: 40476370
IUBMB Life Β· 2025
0.60